Results 281 to 290 of about 586,384 (350)

Targeted Anti‐IL‐1 Immunomodulatory Therapy in Pediatric Onset PPP1R13L‐Related Arrhythmogenic Cardiomyopathy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive loss‐of‐function variants in PPP1R13L cause an ultra‐rare cardiocutaneous syndrome characterized by rapidly progressive arrhythmogenic cardiomyopathy (ACM). PPP1R13L encodes iASPP, which has two potentially overlapping mechanisms driving ACM as both a regulator of NFκB‐mediated inflammation and a binding partner within the ...
Aaron Renberg, Savannah Coppersmith, Owen Merritt, Amer Heider, Adam Helms, Thomas Michniacki, Jack Luxford, Sarah Josephi‐Taylor, Philip Roberts, Joshua Meisner   +9 more
wiley   +1 more source

A Benign Outpouching Masquerading as a Scar: A Case of an Incidentally Diagnosed Cardiac Diverticulum. [PDF]

Cureus
Tabibiazar R, Daneshvar S.
europepmc   +1 more source

Resolution of Refractory Multifocal Atrial Tachycardia in Costello Syndrome Using Trametinib: A Case Supporting MEK Inhibitors as Targeted, Specific Antiarrhythmic

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Arrhythmias affect approximately half of patients with Costello syndrome (CS, OMIM # 218040), with non‐reentrant atrial tachycardia being the most common. This case describes an infant with Costello syndrome carrying the pathogenic HRAS c.34G>A (p.G12S) variant who developed early‐onset, drug‐refractory multifocal atrial tachycardia (MAT ...
Vanina Taliercio, Annabelle Wilcox, Stacey Cole, Josue Flores Daboub, José E. Morales Moreno, Kasey G. Andrews, S. Yukiko Asaki, Thomas A. Pilcher, Martin Tristani‐Firouzi, Mary C. Niu, David Viskochil, Benjamin Hammond   +11 more
wiley   +1 more source

Expanding the Phenotype of TAB2‐Related Syndrome: The First Case With Cleft Palate and Insights Into Palatal Development

American Journal of Medical Genetics Part A, EarlyView.
Alberto De Rosa, Silvia Kalantari, Marta Carboni, Antonella Casella, Elisa Giorgio, Antonia Apicella, Alessia Claudia Codazzi, Fabio Sirchia   +7 more
wiley   +1 more source

Strain Analysis from Transverse CMR Cine Imaging in Congenital Heart Disease: Feasibility, Reproducibility, and Comparison to Global Longitudinal Strain. [PDF]

Healthcare (Basel)
Zieschang V, Kramer P, Götze C, Kelle S, Stegherr R, Khasheei A, Berger F, Nordmeyer J, Kühne T, Nordmeyer S, Schafstedde M.   +10 more
europepmc   +1 more source

Modulation of neurofluid fluctuation frequency by baseline carbon dioxide in awake humans: the role of the autonomic nervous system. [PDF]

Front Physiol
Zhong XZ, Chang C, Chen JJ.
europepmc   +1 more source

Transcranial focused ultrasound stimulation enhances semantic memory by modulating brain morphology, neurochemistry and neural dynamics. [PDF]

Nat Commun
Jung J, Atkinson-Clement C, Kaiser M, Lambon Ralph MA.   +3 more
europepmc   +1 more source

Effect of Exercise on Right Ventricle Inflammation in a Rat Model of Severe Monocrotaline-Induced Pulmonary Arterial Hypertension

, 2015
Tsungai J. Chingombe, Tim Lahm, Mary Beth Brown   +2 more
openalex   +1 more source